ragopathy

Term ID

DOID:0061140

Synonyms

Definition

A syndrome that has_material_basis_in mutations in heterodimeric Ras-related small GTP-binding proteins (Rag-GTPases), which bind mTORC1 in an amino acid-dependent manner and serve as crucial regulators of its kinase activity towards various substrates. https://www.nature.com/articles/s41467-024-50034-4

References

Ontology

Human Disease   ( DOID:0061140 )